CHCHD10 - coiled-coil-helix-coiled-coil-helix domain containing 10 Gene

Homo sapiens

Also known as IMMD; SMAJ; MIX17A; FTDALS2; N27C7-4; C22orf16

Gene ID: 400916 | Gene type: protein coding

About CHCHD10

Cytogenetic location: 22q11.23 Genomic coordinates (GRCh38): 22:23,765,834-23,767,972 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 162 orthologues, 1 paralogue and is associated with 7 phenotypes. Broad expression in heart (RPKM 56.7), colon (RPKM 43.9) and 20 other tissues.

Summary

This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or Oxidative Phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]

CHCHD10 Products(2)

mRNA	Protein	Name
NM_001301339.2	NP_001288268.1	coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform a
NM_213720.3	NP_998885.1	coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform b precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26666268	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial nucleoid organization	IMP IMP: Inferred from mutant phenotype	26666268	GOA
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	20888800	GOA
involved in oxidative phosphorylation	IMP IMP: Inferred from mutant phenotype	20888800	GOA
involved in positive regulation of cristae formation	IMP IMP: Inferred from mutant phenotype	26666268	GOA
involved in positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	26666268	GOA
involved in protein-containing complex assembly	IMP IMP: Inferred from mutant phenotype	26666268	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of MICOS complex	IDA IDA: Inferred from direct assay	26666268	GOA
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	24934289	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	20888800	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHCHD10 Protein Structure

CHCH

0
100
142 a.a.

Protein Preferred Names

Protein Names

coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial

MIX17 homolog A

Related Diseases

Diseases

Alias

Myopathy, Isolated Mitochondrial, Autosomal Dominant

Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance

IMMD

Spinal Muscular Atrophy, Jokela Type

SMAJ	Lower Motor Neuron Syndrome With Late-Adult Onset
Losmon	Late-Onset Spinal Motor Neuronopathy
Atrophy, Muscular, Spinal, Jokela Type

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2

FTDALS2	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-2
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 2

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1	Frontotemporal Dementia And/Or Motor Neuron Disease
Ftdmnd	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia
Alsftd	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1	Frontotemporal Dementia With Motor Neuron Disease
Ftdals	Ftd-Als
Ftd-Mnd	Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1
Frontotemporal Lobar Degeneration	Grn-Related Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Lateral Sclerosis

Primary Lateral Sclerosis	Adult-Onset Primary Lateral Sclerosis
Adult-Onset Pls	Motor Neuron Disease
Pls	Pls - [Primary Lateral Sclerosis]
Lateral Spinal Sclerosis	Lateral Complete Paralysis
Lateral Incomplete Paralysis	Lateral Paralysis

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

Dementia

Dementias	Presenile Dementia
Alzheimer Type Dementia	Alzheimer Sclerosis
Alzheimer Disease Dementia	Alzheimer Dementia
Primary Degenerative Alzheimer Type Dementia	End Stage Alzheimer'S Dementia
Alzheimer'S Type Atypical Dementia	Alzheimer Type Presenile Dementia
Early Onset Alzheimer Dementia	Dementia In Alzheimer Disease Type 2
Dementia In Alzheimer Disease With Early Onset	Early Onset Alzheimer Type Dementia, Uncomplicated
Primary Degenerative Alzheimer Type Dementia, Early Onset	Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated
Alzheimer Disease Dementia With Early Onset	Presenile Sclerosis
Presenile Brain Sclerosis	Presenile Alzheimer Brain Sclerosis
Late Onset Alzheimer Dementia	Dementia In Alzheimer Disease Type 1
Dementia In Alzheimer Disease With Late Onset	Primary Degenerative Alzheimer Type Dementia, Late Onset
Sdat - [Senile Dementia, Alzheimer Type]	Alzheimer Disease Dementia With Late Onset
Late Onset Alzheimer Brain Sclerosis	Senile Alzheimer Brain Disease
Senile Alzheimer Brain Sclerosis	Senile Primary Degenerative Alzheimer Type Dementia
Senile Dementia Of The Alzheimer Type	Arteriosclerotic Dementia
Strategic-Infarct Dementia	Post Stroke Dementia
Vascular Cognitive Impairment	Vascular Dementia
Dementia Of The Lewy Body Type	Dementia With Lewy Bodies
Sdlt - [Senile Dementia Of The Lewy Body Type]	Senile Dementia Of The Lewy Body Type
Alcohol-Related Dementia	Alcoholic Dementia Nos
Alcohol-Induced Dementia	Alcoholic Brain Syndrome
Chronic Alcoholic Brain Syndrome	Alcohol Dementia
Late Onset Alcoholic Psychosis	Residual And Late-Onset Alcohol-Induced Psychotic Disorder
Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder	Late-Onset Psychoactive Substance-Induced Psychotic Disorder
Inhalant Dementia	Volatile Solvents Dementia
Dementia In Paralysis Agitans	Pdd - [Parkinson Disease Dementia]
Dementia Syndrome Of Parkinson Disease	Dementia In Parkinson Disease
Parkinson Related Dementia	Dementia In Huntington Chorea
Hiv - [Human Immunodeficiency Virus] Dementia	Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex
Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex	Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex
Aids Related Dementia	Dementia Due To Niacin Deficiency

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3

FTDALS3	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-3
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 3

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4

FTDALS4	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-4
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 4

Myopathy

Muscular Diseases

Myopathies

Spinocerebellar Ataxia 2

Spinocerebellar Ataxia Type 2	SCA2
Amyotrophic Lateral Sclerosis 13	Spinocerebellar Degeneration With Slow Eye Movements
SDSEM	Spinocerebellar Atrophy Ii
Olivopontocerebellar Atrophy Ii	Opca2
Cerebellar Degeneration With Slow Eye Movements	Wadia-Swami Syndrome
Amyotrophic Lateral Sclerosis Type 13	ALS13
Olivopontocerebellar Atrophy Holguin Type	Spinocerebellar Ataxia Cuban Type
Olivopontocerebellar Atrophy, Holguin Type	Spinocerebellar Ataxia, Cuban Type
Amyotrophic Lateral Sclerosis, Susceptibility To, 13	Olivopontocerebellar Atrophy 2
Sca 2	Spinocerebellar Ataxia With Slow Eye Movements
Spinocerebellar Atrophy 2	Wadia Swami Syndrome
Opca Ii	Spinocerebellar Ataxia-2
Ataxia, Spinocerebellar, Type 2

Amyotrophic Lateral Sclerosis 18

Amyotrophic Lateral Sclerosis Type 18	ALS18
Sclerosis, Lateral, Amyotrophic, Type 18

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Spondylometaphyseal Dysplasia, Axial

Axial Spondylometaphyseal Dysplasia	SMDAX
Axial Smd	Smd Axial
Smd, Axial	Spondylometaphyseal Dysplasia Axial Type
Dysplasia, Spondylometaphyseal, Axial

Amyotrophic Lateral Sclerosis Type 22

Als 22	Amyotrohpic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 22

Combined Oxidative Phosphorylation Deficiency 37

COXPD37

Progressive Muscular Atrophy

Progressive Spinal Muscular Atrophy	Pure Progressive Muscular Atrophy
Pma	Hereditary Spinal Muscle Atrophy
Pma - [Progressive Muscular Atrophy]	Progressive Muscle Atrophy
Progressive Spinal Muscle Atrophy	Duchenne-Aran Atrophy
Duchenne-Aran Muscle Atrophy	Hereditary Sma - [Spinal Muscle Atrophy]

Amyotrophic Lateral Sclerosis Type 14

Als14	Amyotrophic Lateral Sclerosis 14
Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Moyamoya Disease 1

Moyamoya Disease	Spontaneous Occlusion Of The Circle Of Willis
Mymy	Progressive Intracranial Arterial Occlusion
Moyamoya Syndrome	MYMY1
Cerebrovascular Moyamoya Disease	Moya-Moya Disease
Progressive Intracranial Occlusive Arteropathy	Idiopathic Moyamoya Disease

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Pagetoid Amyotrophic Lateral Sclerosis	Pagetoid Neuroskeletal Syndrome
Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia	Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia
Multisystem Proteinopathy	Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone
Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement
Lower Motor Neuron Degeneration With Paget-Like Bone Disease	Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02598	CHCHD10 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CHCHD10	VGNC	VGNC:39194
Bos taurus	CHCHD10	VGNC	VGNC:27271
Rattus norvegicus	CHCHD10	RGD	RGD:1359417
Felis catus	CHCHD10	VGNC	VGNC:60838
Mus musculus	CHCHD10	MGD	MGI:2143558
Macaca mulatta	CHCHD10	VGNC	VGNC:107780

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